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First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice
We report the first microdeletion (26 kb) of the biotinidase gene (BTD) that involves three of the four exons of the gene. This deletion further exemplifies the importance of performing microarray analysis or other methodologies for a deletion of the BTD gene when the enzymatic activity indicates lo...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2016
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789387/ https://www.ncbi.nlm.nih.gov/pubmed/27014582 http://dx.doi.org/10.1016/j.ymgmr.2016.02.006 |